No Pain, No Gain of Function: Epilepsy-Associated Variants in SCN2A Defy Classification

Affiliations

¹ Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia Epilepsy NeuroGenetics Initiative, The Children's Hospital of Philadelphia.
² Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia Epilepsy NeuroGenetics Initiative, The Children's Hospital of Philadelphia Department of Neurology, The Perelman School of Medicine at The University of Pennsylvania Department of Neuroscience, The Perelman School of Medicine at The University of Pennsylvania.

Comment

Jérôme Clatot et al. Epilepsy Curr. 2024.

. 2024 Jan 17;24(2):126-128.

doi: 10.1177/15357597231225565. eCollection 2024 Mar-Apr.

¹ Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia Epilepsy NeuroGenetics Initiative, The Children's Hospital of Philadelphia.
² Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia Epilepsy NeuroGenetics Initiative, The Children's Hospital of Philadelphia Department of Neurology, The Perelman School of Medicine at The University of Pennsylvania Department of Neuroscience, The Perelman School of Medicine at The University of Pennsylvania.

No abstract available

Conflict of interest statement

The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.
Thompson CH, Potet F, Abramova TV, DeKeyser JM, Ghabra NF, Vanoye CG, Millichap JJ, George AL. Thompson CH, et al. J Gen Physiol. 2023 Oct 2;155(10):e202313375. doi: 10.1085/jgp.202313375. Epub 2023 Aug 14. J Gen Physiol. 2023. PMID: 37578743 Free PMC article.

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